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NM_018035.3(DMAC2):c.615C>T (p.Asp205=) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jun 12, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV004326643.1

Allele description [Variation Report for NM_018035.3(DMAC2):c.615C>T (p.Asp205=)]

NM_018035.3(DMAC2):c.615C>T (p.Asp205=)

Genes:
LOC110121465:VISTA enhancer hs1948 [Gene]
DMAC2:distal membrane arm assembly component 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.2
Genomic location:
Preferred name:
NM_018035.3(DMAC2):c.615C>T (p.Asp205=)
HGVS:
  • NC_000019.10:g.41432390G>A
  • NG_054078.1:g.1410G>A
  • NM_001167867.2:c.633C>T
  • NM_001167868.2:c.470C>T
  • NM_001167869.2:c.452C>T
  • NM_001167870.2:c.371C>T
  • NM_001167871.2:c.534C>T
  • NM_001320838.2:c.415C>T
  • NM_001320839.2:c.*878C>T
  • NM_001320840.2:c.552C>T
  • NM_001320841.2:c.389C>T
  • NM_001320844.2:c.*878C>T
  • NM_018035.3:c.615C>TMANE SELECT
  • NP_001161339.1:p.Asp211=
  • NP_001161340.1:p.Thr157Ile
  • NP_001161341.1:p.Thr151Ile
  • NP_001161342.1:p.Thr124Ile
  • NP_001161343.1:p.Asp178=
  • NP_001307767.1:p.His139Tyr
  • NP_001307769.1:p.Asp184=
  • NP_001307770.1:p.Thr130Ile
  • NP_060505.2:p.Asp205=
  • NC_000019.9:g.41938295G>A
  • NM_018035.2:c.615C>T
  • NR_030765.2:n.611C>T
  • NR_135476.2:n.479C>T
  • NR_135477.2:n.625C>T
  • NR_135478.2:n.642C>T
Protein change:
H139Y
Molecular consequence:
  • NM_001320839.2:c.*878C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001320844.2:c.*878C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001167868.2:c.470C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001167869.2:c.452C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001167870.2:c.371C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320838.2:c.415C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320841.2:c.389C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_030765.2:n.611C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_135476.2:n.479C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_135477.2:n.625C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_135478.2:n.642C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001167867.2:c.633C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001167871.2:c.534C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001320840.2:c.552C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_018035.3:c.615C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003987168Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jun 12, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV003987168.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024